@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP483904.RANfO7QqGLlSTPTg1l0YeSv3XVia4FZtKkY4AHKhLSYJw
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v4.0.0/void/
> .
dgn-np:NP483904.RANfO7QqGLlSTPTg1l0YeSv3XVia4FZtKkY4AHKhLSYJw130_head
{
this:
np:hasAssertion
dgn-np:NP483904.RANfO7QqGLlSTPTg1l0YeSv3XVia4FZtKkY4AHKhLSYJw130_assertion
;
np:hasProvenance
dgn-np:NP483904.RANfO7QqGLlSTPTg1l0YeSv3XVia4FZtKkY4AHKhLSYJw130_provenance
;
np:hasPublicationInfo
dgn-np:NP483904.RANfO7QqGLlSTPTg1l0YeSv3XVia4FZtKkY4AHKhLSYJw130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP483904.RANfO7QqGLlSTPTg1l0YeSv3XVia4FZtKkY4AHKhLSYJw130_assertion
a
np:Assertion
.
dgn-np:NP483904.RANfO7QqGLlSTPTg1l0YeSv3XVia4FZtKkY4AHKhLSYJw130_provenance
a
np:Provenance
.
dgn-np:NP483904.RANfO7QqGLlSTPTg1l0YeSv3XVia4FZtKkY4AHKhLSYJw130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP483904.RANfO7QqGLlSTPTg1l0YeSv3XVia4FZtKkY4AHKhLSYJw130_assertion
{
miriam-gene:55605
a
ncit:C16612
.
lld:C1302995
a
ncit:C7057
.
dgn-gda:DGNe853099ad2934f7e36c3cceb69253574
sio:SIO_000628
miriam-gene:55605
,
lld:C1302995
;
a
sio:SIO_001121
.
}
dgn-np:NP483904.RANfO7QqGLlSTPTg1l0YeSv3XVia4FZtKkY4AHKhLSYJw130_provenance
{
dgn-np:NP483904.RANfO7QqGLlSTPTg1l0YeSv3XVia4FZtKkY4AHKhLSYJw130_assertion
dcterms:description
"[Genotyping of families with CFEOM and HGPPS for polymorphic markers in the regions of the three known CFEOM loci and in the HGPPS region, and mutation analysis of the ARIX and KIF21A genes in patients with CFEOM were performed according to standard published protocols.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:15747768
;
prov:wasDerivedFrom
dgn-void:befree-2016
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-2016
pav:importedOn
"2016-02-19"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP483904.RANfO7QqGLlSTPTg1l0YeSv3XVia4FZtKkY4AHKhLSYJw130_publicationInfo
{
this:
dcterms:created
"2016-05-13T12:45:24+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v4.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v4.0.0" .
}